|
CEREBRO OCULO FACIO SKELETAL (COFS)
SYNDROME
|
|
ALTERNATE NAMES
|
Cockayne Syndrome-Classical Type I; Cockayne Syndrome-Congenital Type II; Pena Shokeir
Syndrome Type II
|
|
DESCRIPTION
|
Cerebro oculo facio
skeletal (COFS) syndrome is a pediatric, genetic, degenerative disorder that involves the brain and the spinal
cord that begins before birth. It is characterized by craniofacial and skeletal abnormalities,
severely reduced muscle tone, and impairment of reflexes. Other findings may include
large, low-set ears, small eyes, microcephaly (abnormal smallness of the head), micrognathia
(abnormal smallness of the jaws), clenched fists, wide-set nipples, vision impairments,
involuntary eye movements, and intellectual disability, which can be moderate or severe.
Respiratory infections are frequent. A small number of individuals with COFS have
a mutation in the “ERCC6” gene and are more appropriately diagnosed as having Cockayne
Syndrome Type II. Other individuals with COFS may have defects in the xeroderma pigmentosum
genes “XPG” or “XPD”. Still others who are diagnosed with COFS have no identifiable
genetic defect and are presumably affected because of mutations in a distinct, as-yet-unknown
gene. NOTE: This disorder is not the same as Cohen's syndrome (cerebral obesity ocular skeletal
syndrome).
|
|
DIAGNOSTIC TESTING, PHYSICAL FINDINGS, AND
ICD-9-CM/ICD-10-CM
CODING
|
Diagnostic testing: COFS is usually diagnosed at birth. Ultrasound technology can detect fetuses with
COFS at an early stage of pregnancy because the fetus moves very little.
Genetic testing showing the ERCC6, XPG, or XPD gene mutations, are associated with
the syndrome but are not considered alone as diagnostic or confirmatory of COFS syndrome.
Physical findings: Physical examination shows:
-
•
Flexion contractures (fixed bending of the elbows and knees);
-
-
•
Bending of the fingers (camptodactyly);
-
-
•
Craniofacial and skeletal abnormalities;
-
•
Severely reduced muscle tone;
-
•
Impaired reflexes and porous bones (osteoporosis).
Other findings may include:
-
-
-
•
Microcephaly (abnormal smallness of the head);
-
•
Micrognathia (abnormal smallness of the jaws);
-
-
-
-
•
Involuntary eye movements; and
-
ICD-9:
759.89
ICD-10:
Q87.0
|
|
PROGRESSION
|
COFS is a fatal disease. Death usually occurs by 5 years of age.
|
|
TREATMENT
|
Treatment is supportive and symptomatic. Individuals with the disorder often require
tube feeding. Because COFS is genetic, genetic counseling is available.
|
| SUGGESTED PROGRAMMATIC ASSESSMENT* |
Suggested MER for Evaluation:
-
•
Clinical history and examination and examination that describes the diagnostic features
of the impairment; and
-
|
| Suggested Listings for
Evaluation: |
| DETERMINATION |
LISTING
|
REMARKS |
| Meets |
110.08 B |
Clinical evidence consistent with COFS syndrome. The results of genetic testing may
contribute in confirmation of the diagnosis.
|
| Equals |
|
|
| * Adjudicators may, at their discretion, use the Medical Evidence of Record or the
listings suggested to evaluate the claim. However, the decision to allow or deny the
claim rests with the adjudicator.
|